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Article

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

Neuromuscular disorders : NMD - 1 Nov 2004

Müller Juliane S, Abicht Angela, Christen Hans-Jürgen, Stucka Rolf, Schara Ulrike, Mortier Wilhelm, Huebner Angela, Lochmüller Hanns

Abstract excerpt

The objective is mutation analysis of the RAPSN gene in a patient with sporadic congenital myasthenic syndrome (CMS). Mutations in various genes encoding proteins expressed at the neuromuscular junction may cause CMS. Most mutations affect the epsilon subunit gene of the acetylcholine receptor (AChR) leading to endplate AChR deficiency. Recently, mutations in the RAPSN gene have been identified in several CMS...

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Share to Chromosomes
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Proteins

Share to Myasthenic Syndromes, Congenital

Share to Neuromuscular Junction

Share to Polymorphism, Restriction Fragment Length

Share to Receptors, Cholinergic

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 15482960
DOI: 10.1016/j.nmd.2004.06.010

Genes

RAPSN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.PMID 15482960Read ↗

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